ClinVar Miner

List of variants in gene USH1C reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 18A

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter) rs766327614 0.00001
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-2A>G
NM_153676.4(USH1C):c.1086-1G>T
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1210+2T>G
NM_153676.4(USH1C):c.1508_1509dup (p.Ala504fs)
NM_153676.4(USH1C):c.2185-1G>A
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2381-7_2381del
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter) rs371257969
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
NM_153676.4(USH1C):c.249-1G>A
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter)
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-1G>C
NM_153676.4(USH1C):c.380_381insTTT (p.Leu128_Gln129insLeu)
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153676.4(USH1C):c.497-2A>G
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs)
NM_153676.4(USH1C):c.541del (p.Thr181fs)
NM_153676.4(USH1C):c.544T>C (p.Trp182Arg)
NM_153676.4(USH1C):c.579+1G>A
NM_153676.4(USH1C):c.579+2T>C
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.70del (p.Asp24fs)
NM_153676.4(USH1C):c.711del (p.Phe237fs)
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
NM_153676.4(USH1C):c.877-2A>G
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)

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